Varaico: Literature-Extracted Genetic Variants

MYBPC2

114 papers

RefSeq Summary

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-brid...

Pfam Domains

THBaa 213–246UCSCTri-helix bundle domain

I-setaa 256–338UCSCImmunoglobulin I-set domain

I-setaa 346–435UCSCImmunoglobulin I-set domain

I-setaa 439–524UCSCImmunoglobulin I-set domain

I-setaa 548–635UCSCImmunoglobulin I-set domain

fn3aa 640–731UCSCFibronectin type III domain

Gene Aliases

HGNC Name

myosin binding protein C2

HGNC Alias Symbols

MYBPCF; MGC163408; fsMyBP-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004533.4

p.G52S

c.154G>A

Surrounding Variants

1 paper

NM_004533.4

p.P45L

c.134C>T

1 paper

NM_004533.4

p.K67R

c.200A>G

1 paper

NM_004533.4

p.V71V

c.213C>T

1 paper

NM_004533.4

p.P81R

c.242C>G

1 paper

NM_004533.4

p.P84L

c.251C>T

1 paper

NM_004533.4

p.K99N

c.297G>C

1 paper

NM_004533.4

p.K99N

c.297G>T

1 paper

NM_004533.4

p.A102T

c.304G>A

1 paper

NM_004533.4

p.K10fs

c.28_29fs

1 paper

NM_004533.4

p.A7V

c.20C>T

1 paper

NM_004533.4

p.V119M

c.355G>A

1 paper

NM_004533.4

p.R131C

c.391C>T